Variant report

Variant	rs62045232
Chromosome Location	chr15:56284419-56284420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56283238..56284535-chr15:56344426..56345460,6	MCF-7	breast:
2	chr15:56282892..56284804-chr15:56387312..56388901,2	MCF-7	breast:
3	chr15:56282101..56284524-chr15:56536077..56539290,3	MCF-7	breast:
4	chr1:145381291..145384278-chr15:56284107..56286728,2	MCF-7	breast:
5	chr15:56282050..56287467-chr15:56534024..56538662,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201558	Chromatin interaction
ENSG00000181827	Chromatin interaction
ENSG00000151575	Chromatin interaction
ENSG00000233396	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10152581	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438427	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438587	0.83[AMR][1000 genomes]
rs12439341	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17819312	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2036739	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414455	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34652186	0.83[ASN][1000 genomes]
rs62045229	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045236	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045239	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046378	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046379	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046381	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046386	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046390	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046391	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046392	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046393	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046394	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046397	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73420376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028475	0.93[AMR][1000 genomes]
rs8034692	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv457159	chr15:56255774-56321854	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv569543	chr15:56255774-56321854	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv457160	chr15:56273446-56320235	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv569544	chr15:56273446-56320235	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
7	nsv457161	chr15:56274443-56324451	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
8	nsv569545	chr15:56274443-56324451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56248200-56285200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56276400-56285000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:56280400-56285200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:56282200-56284600	Weak transcription	Fetal Stomach	stomach
5	chr15:56282800-56284600	Enhancers	Small Intestine	intestine
6	chr15:56283000-56284600	Weak transcription	Fetal Kidney	kidney
7	chr15:56283000-56284800	Enhancers	Brain Substantia Nigra	brain
8	chr15:56283200-56285000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:56283400-56284600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:56283400-56284600	Flanking Active TSS	A549	lung
11	chr15:56283400-56285000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr15:56283600-56284800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:56283600-56284800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:56283600-56284800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr15:56283600-56284800	Enhancers	Brain Hippocampus Middle	brain
16	chr15:56283600-56285000	Flanking Active TSS	Hela-S3	cervix
17	chr15:56283600-56285000	Flanking Active TSS	Osteobl	bone
18	chr15:56283600-56285200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:56283600-56285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:56283800-56284600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:56283800-56284600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr15:56283800-56284600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:56283800-56284600	Enhancers	Placenta	Placenta
24	chr15:56283800-56284600	Enhancers	Right Ventricle	heart
25	chr15:56283800-56284600	Flanking Active TSS	NHDF-Ad	bronchial
26	chr15:56283800-56284800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr15:56283800-56284800	Enhancers	Primary T cells from cord blood	blood
28	chr15:56283800-56284800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:56283800-56285000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:56283800-56285000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:56283800-56285000	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr15:56283800-56285000	Flanking Active TSS	HUVEC	blood vessel
33	chr15:56283800-56285000	Flanking Active TSS	K562	blood
34	chr15:56283800-56285200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:56283800-56286800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:56284000-56284600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:56284000-56284600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr15:56284000-56284600	Weak transcription	Fetal Thymus	thymus
39	chr15:56284000-56284800	Enhancers	Brain Cingulate Gyrus	brain
40	chr15:56284000-56285000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:56284000-56285200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:56284000-56285200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr15:56284000-56285200	Weak transcription	Stomach Mucosa	stomach
44	chr15:56284000-56286800	Active TSS	Right Atrium	heart
45	chr15:56284000-56287000	Active TSS	NHLF	lung
46	chr15:56284200-56284600	Enhancers	Liver	Liver
47	chr15:56284200-56284600	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr15:56284200-56284600	Enhancers	Psoas Muscle	Psoas
49	chr15:56284200-56284600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr15:56284200-56284600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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